Clinical trial of vitamin B6 for gyrate atrophy of the choroid and retina.
Seven patients with gyrate atrophy and deficiency of ornithine-delta-aminotransferase were studied for in vivo pyridoxine responsiveness; three responded to oral vitamin B6 with over 50% reduction of serum ornithine levels and return to normal of serum lysine levels. Electrophysiologic studies were performed on two B6-responsive patients and one B6-nonresponder over various time periods with and without pyridoxine supplementation. Electroretinogram (ERG) amplitudes improved 100% in one patient when initially given high doses of vitamin B6. Electro-oculogram light-to-dark ratio also improved for this patient. Withdrawal followed by resumption of B6 supplementation was associated with mild worsening followed by improvement of ERG responses respectively in both patients. Long-term follow-up will be needed to assess whether pyridoxine treatment will slow or halt the progression of the disease.
D000704:Analysis of Variance; D001284:Atrophy; D002829:Choroid; D004305:Dose-Response Relationship, Drug; D004596:Electroretinography; D006801:Humans; D008239:Lysine / Q000097:blood; D009952:Ornithine / Q000097:blood; D011736:Pyridoxine / Q000627:therapeutic use*; D012162:Retinal Degeneration / Q000188:drug therapy / Q000235:genetics* / Q000503:physiopathology; D014603:Uveal Diseases / Q000188:drug therapy / Q000235:genetics / Q000503:physiopathology
D009952:Ornithine; D008239:Lysine; D011736:Pyridoxine